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To describe the diffusion-weighted imaging (DWI) findings in young children with moyamoya disease (MMD) during the acute period of the condition. Clinical data were collected from 12 children with MMD aged less than six years, in whom abnormalities were observed on DWI scans obtained within one week after the appearance of symptoms related to MMD. The DWI abnormalities were classified into gyral, atypical territorial, honeycomb, classical territorial, multiple-dot, border zone, and deep lacunar patterns. The severity of arterial stenosis was graded by angiographic stages that have been previously described. In all but one child, the DWI abnormalities were restricted to the cerebral cortex. The lesions were gyral in nature in seven children and atypical territorial in five; all differed from those of typical arterial strokes. Internal carotid artery stenosis was observed in all 12 children, although the stenosis was mild in 11. The severity of arterial stenosis did not match the regions of ischemic lesions in some children. There was no statistically significant difference in the severity of arterial stenosis according to the presence or absence of ischemic lesions or the pattern of the lesions. Lesions located mainly in the cerebral cortex, i.e., not in arterial territories, are characteristic of young children with MMD. [ABSTRACT FROM AUTHOR]

Objective: To examine the efficacy and tolerance of the antiseizure medications lacosamide (LCM) and levetiracetam (LEV) in patients with benign infantile epilepsy (BIE).Methods: The clinical data of 24 children with BIE seen between 2014 and 2020 were collected retrospectively, and treatment, effectiveness, and adverse effects were examined. PRRT2 gene analysis was performed using Sanger sequencing.Results: Of the 24 children with BIE, 14 were treated with antiseizure medications. PRRT2 gene analysis was performed in 14 children, and mutations were identified in 4, including a pair of siblings. All five children treated with LCM became seizure-free, similar to those treated with carbamazepine. The LCM does was 2 mg/kg/day in all cases. There were no adverse effects in any patient treated with LCM. By contrast, both patients treated with LEV had seizure recurrence. In one patient, LEV was replaced with CBZ, resulting in seizure freedom.Conclusions: Low-dose LCM was effective and well tolerated in patients with BIE, whereas LEV was insufficiently effective. [ABSTRACT FROM AUTHOR]

Benign convulsions with gastroenteritis are characterized by a cluster of seizures. Sodium channel blockers are efficacious. We prescribed lacosamide, a new channel blocker, for five patients. Patient age ranged from 17 to 33 months; all five experienced 1–4 generalized convulsions persisting for 30–120 s. One patient exhibited a transient splenial lesion on head magnetic resonance imaging. All received one dose (2 mg/kg) of lacosamide. The convulsions ceased, and no adverse drug effect was noted. A single dose of lacosamide was effective and well-tolerated in five patients with benign convulsions with gastroenteritis. [ABSTRACT FROM AUTHOR]

Purpose: This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations.Methods: The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and 18 had PKD alone. Of the cases, 105 were familial, and 30 were sporadic. Clinical information was collected using a structured questionnaire.Results: PRRT2 mutations were identified in 104 patients. Among the familial cases, PRRT2 mutations were found in at least one individual in 21 of 28 families with BIE alone, in 26 of 27 families with infantile convulsions and choreoathetosis, and in 2 of 3 families with PKD alone. Among the sporadic cases, PRRT2 mutations were observed in 7 of 25 patients with BIE alone, in 1 of 1 patient with BIE and PKD, and in 3 of 4 patients with PKD alone. The c.649dupC mutation was the most frequent, followed by the c.981C > G mutation. Among the patients with epilepsy, the median age at BIE onset was 5 months, the median age at the last seizure was 6 months, and the median number of seizures was 5.Conclusion: PRRT2 mutations were found in 68% of Japanese probands with BIE or PKD. The phenotypes of BIE associated with PRRT2 mutations were consistent with those of BIE diagnosed clinically. [ABSTRACT FROM AUTHOR]

As there have been no comprehensive reports of human metapneumovirus-associated encephalopathy (hMPVE), this study examined the clinical features of hMPVE in children in Japan. A nationwide survey of children with hMPVE was conducted using a structured research form. An initial survey asked pediatricians about children with hMPVE treated between 2014 and 2018. A second survey obtained patient information from hospitals that responded to the initial survey and those identified as having treated cases from a literature search. We collected demographic data, symptoms of hMPV infection, neurological symptoms, laboratory data, treatment, and outcomes. Outcomes were determined using the Pediatric Cerebral Performance Category Score. Clinical information was available for 16 children. Their median age was 37 months. Six had preexisting neurological disorders. The interval between the onsets of infection and hMPVE was 4 days. Outcomes were good in 11 patients and poor in 5. There were no significant differences in demographic data, neurological symptoms, or laboratory data between the patients with good and poor outcomes. The encephalopathy subtypes were acute encephalopathy with biphasic seizures and late reduced diffusion in 3, clinically mild encephalitis/encephalopathy with a reversible splenial lesion in 3, hemorrhagic shock and encephalopathy syndrome in 2, and others in 8. The outcomes of children with hMPVE were not very different from those of acute encephalopathy due to other viruses. We found no factors associated with poor outcomes. [ABSTRACT FROM AUTHOR]

The efficacy of nusinersen and its evaluation in patients with spinal muscular atrophy (SMA) has been established in clinical trials only for pediatric patients, not for adolescent and adult patients who developed SMA in infancy or early childhood. We report a long-term follow-up in adolescent and adult patients with SMA types 1 and 2. Nusinersen-treated patients with SMA types 1 and 2 between 2017 and 2022 were retrospectively reviewed. We compared baseline motor function tests with those after the final treatment. Physical and occupational therapists performed Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND), Hammersmith Functional Motor Scale-Expanded (HFMSE), and Revised Upper Limb Module (RULM). The Landau and Galant reflexes were not performed in CHOP-INTEND. Meaningful improvement was defined as CHOP-INTEND, 4; HFSME, 3; and RULM, 2. Seven patients with SMA (type 1, 1; type 2, 6) with a median age of 23 (range, 12–40) years were treated with nusinersen for 3.55 (1.78–4.53) years. Improvement was detected in CHOP-INTEND (pre, 5 [0–31]; post, 21 [0–39]; difference, 5 [0–26]; p = 0.100) without significance, although not in HFMSE (pre, 0 [0–3]; post, 0 [0–5]; difference, 0 [0–2]; p = 0.346) and RULM (pre, 1 [0–20]; post, 3 [0–21]; difference, 1 [0–2]; p = 0.089). Owing to prolonged treatment intervals with the COVID-19 pandemic, RULM worsened in two patients. Nusinersen was effective in long-term follow-up. Only CHOP-INTEND showed meaningful improvement. The interval between doses of nusinersen should not be prolonged even with the COVID-19 pandemic. [ABSTRACT FROM AUTHOR]

This study measured the serum carnitine levels in patients with epilepsy and determined the factors contributing to low carnitine levels. We measured the serum carnitine levels in 94 consecutive patients with epilepsy, including the free carnitine (FC) and acylcarnitine fractions, using an enzyme cycling method. We defined a low FC as a serum FC level < 36 μmol/L. Age, body mass index (BMI), standard deviation score of BMI (BMI-SDS), use of valproate, cognitive disorder, and feeding problems differed between patients with low and normal FC. In patients taking valproate, the associations of the serum FC level with the platelet count and serum ammonia and amylase levels were analyzed. Univariate analysis showed that a low BMI and BMI-SDS, the use of valproate, and cognitive disorder were more frequent in patients with a low FC. Logistic regression analysis revealed that a low BMI-SDS and cognitive disorders were independently associated with a low FC. Among the patients taking valproate, a low BMI-SDS and age were associated with a low FC. The serum FC and ammonia levels were inversely correlated, whereas no correlation was observed between the serum FC level and platelet count or serum amylase level. A low BMI and cognitive disorders were related to a low FC in patients with epilepsy and the serum carnitine levels should be monitored in these patients. [ABSTRACT FROM AUTHOR]

Abstract Objective The aim of this study was to clarify the effects of antihistamines on the semiology of febrile seizures. Methods The manifestations of febrile seizures were recorded using a structured questionnaire immediately after patients arrived at the hospital. We focused on events at seizure commencement, including changes in behavior and facial expression, and ocular and oral symptoms. The presence or absence of focal and limbic features was determined for each patient. Drugs taken within 6 h prior to seizure were noted. Seizure manifestations were compared between children who did not take antihistamines and those who took antihistamines. Results Seizures lasting ≥5 min were relatively more frequent in children who did not take antihistamines, although the difference was not statistically significant. One or more focal features were present in 60 of 78 children with no antihistamines and 17 of 23 children with antihistamines. One or more limbic features were present in 32 of 78 children with no antihistamines and 9 of 23 children with antihistamines. No significant difference in the numbers of focal or limbic features was apparent between children who did not take antihistamines and those who took antihistamines. Conclusion Antihistamines did not significantly affect the semiology of febrile seizures. [ABSTRACT FROM AUTHOR]

Abstract We report on a 4-year-old girl with a de novo GNAO1 mutation who had neurological findings, including decreased spontaneous movements, hypotonia, and dystonic features. She was referred to our hospital because of delayed psychomotor development. She showed hypotonia and decreased spontaneous movements. Voluntary movements of the limbs were more frequent in the lower extremities than in the upper extremities. Occasional dyskinetic features, such as awkward hand/foot posturing and grimacing, were seen during the voluntary movements. Serum metabolic screening, head magnetic resonance imaging, and electroencephalography were unremarkable. Whole-exome sequencing revealed a de novo mutation in the patient’s GNAO1 gene, c.709 G > A (p.E237K). We calculated the free-energy change using the FoldX Suite to evaluate the impact of the E237K mutation. The FoldX calculations showed an increased free-energy change in the active state of the GNAO1 protein, indicating that the E237K mutation destabilizes the active state complexes. No seizures, chorea, tremor, or myoclonia, which are frequently reported in patients with GNAO1 mutations, were observed as of the last follow up. Our patient will improve the understanding of early neurological features in patients with GNAO1 mutations. [ABSTRACT FROM AUTHOR]